Mutagenetix > Incidental Mutation

Incidental Mutation 'R4277:Folh1'

322742

Institutional Source

Beutler Lab

Gene Symbol

Folh1

Ensembl Gene

ENSMUSG00000001773

Gene Name

folate hydrolase 1

Synonyms

GCP2, mopsm, glutamate carboxypeptidase II, prostate-specific membrane antigen

MMRRC Submission

041078-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86368185-86425151 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 86412123 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001824] [ENSMUST00000107271]

AlphaFold

O35409

Predicted Effect

probably null
Transcript: ENSMUST00000001824

SMART Domains

Protein: ENSMUSP00000001824
Gene: ENSMUSG00000001773

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:PA	171	264	2.5e-16	PFAM
Pfam:Peptidase_M28	359	561	1.2e-18	PFAM
Pfam:TFR_dimer	629	749	1.6e-37	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107271

SMART Domains

Protein: ENSMUSP00000102892
Gene: ENSMUSG00000001773

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:PA	167	265	7e-18	PFAM
Pfam:Peptidase_M28	339	475	2.1e-15	PFAM
Pfam:TFR_dimer	595	718	1.1e-43	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209082

Meta Mutation Damage Score

0.9386

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (33/33)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in protection from peripheral neuropathy and ischemic brain injury. Homozygotes for a null allele show increased food intake, anxiety-like behavior, smaller sciatic nerve axons, and impaired angiogenesis. Homozygotes for a different null allele show less neuron degeneration and astrocyte damage after traumatic brain injury. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,397,955 (GRCm39)		probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Cdh20	T	A	1: 109,993,418 (GRCm39)	I291K	probably benign	Het
Cdhr3	T	G	12: 33,110,232 (GRCm39)	S351R	probably null	Het
Dnah10	T	C	5: 124,809,394 (GRCm39)	S221P	probably benign	Het
Dstyk	G	A	1: 132,383,151 (GRCm39)		probably null	Het
Ern1	T	C	11: 106,298,007 (GRCm39)	I705V	probably benign	Het
Hemk1	A	G	9: 107,205,728 (GRCm39)	Y260H	possibly damaging	Het
Jmjd8	A	G	17: 26,048,787 (GRCm39)		probably benign	Het
Ldhc	G	A	7: 46,515,890 (GRCm39)	A62T	probably benign	Het
Ndufs1	C	T	1: 63,209,256 (GRCm39)	V36I	possibly damaging	Het
Nsun4	C	T	4: 115,891,479 (GRCm39)	G300D	probably damaging	Het
Nsun5	A	G	5: 135,398,914 (GRCm39)	Y26C	probably damaging	Het
Ntn4	T	C	10: 93,577,072 (GRCm39)	I580T	possibly damaging	Het
Or7d10	A	G	9: 19,831,685 (GRCm39)	Y60C	possibly damaging	Het
Rasal2	A	T	1: 156,984,696 (GRCm39)	I992N	possibly damaging	Het
Rasgrp4	T	A	7: 28,852,019 (GRCm39)		probably benign	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spp2	T	C	1: 88,338,873 (GRCm39)	F79L	probably damaging	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Trpv3	A	G	11: 73,187,264 (GRCm39)	T699A	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vegfa	A	G	17: 46,342,392 (GRCm39)	V142A	probably benign	Het
Vnn1	A	T	10: 23,774,410 (GRCm39)	D151V	possibly damaging	Het

Other mutations in Folh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Folh1	APN	7	86,383,351 (GRCm39)	missense	probably damaging	1.00
IGL00531:Folh1	APN	7	86,368,977 (GRCm39)	missense	possibly damaging	0.82
IGL00772:Folh1	APN	7	86,380,992 (GRCm39)	missense	probably damaging	1.00
IGL01339:Folh1	APN	7	86,375,306 (GRCm39)	missense	probably damaging	1.00
IGL01373:Folh1	APN	7	86,395,350 (GRCm39)	missense	probably benign	0.39
IGL01645:Folh1	APN	7	86,391,435 (GRCm39)	missense	probably damaging	1.00
IGL01736:Folh1	APN	7	86,391,444 (GRCm39)	missense	possibly damaging	0.96
IGL02104:Folh1	APN	7	86,393,638 (GRCm39)	missense	possibly damaging	0.93
IGL02124:Folh1	APN	7	86,374,626 (GRCm39)	missense	probably damaging	0.99
IGL02338:Folh1	APN	7	86,385,723 (GRCm39)	splice site	probably benign
IGL02440:Folh1	APN	7	86,383,312 (GRCm39)	missense	probably benign	0.09
IGL02689:Folh1	APN	7	86,412,253 (GRCm39)	splice site	probably null
IGL02976:Folh1	APN	7	86,412,126 (GRCm39)	missense	probably benign
IGL03022:Folh1	APN	7	86,395,379 (GRCm39)	missense	possibly damaging	0.76
R0090:Folh1	UTSW	7	86,375,076 (GRCm39)	splice site	probably benign
R0285:Folh1	UTSW	7	86,391,373 (GRCm39)	splice site	probably benign
R0482:Folh1	UTSW	7	86,395,309 (GRCm39)	splice site	probably benign
R0492:Folh1	UTSW	7	86,395,400 (GRCm39)	missense	probably damaging	1.00
R1079:Folh1	UTSW	7	86,421,089 (GRCm39)	missense	probably damaging	1.00
R1148:Folh1	UTSW	7	86,410,938 (GRCm39)	missense	probably damaging	1.00
R1148:Folh1	UTSW	7	86,410,938 (GRCm39)	missense	probably damaging	1.00
R1493:Folh1	UTSW	7	86,410,938 (GRCm39)	missense	probably damaging	1.00
R1778:Folh1	UTSW	7	86,410,907 (GRCm39)	critical splice donor site	probably null
R1865:Folh1	UTSW	7	86,375,114 (GRCm39)	missense	possibly damaging	0.65
R1878:Folh1	UTSW	7	86,420,950 (GRCm39)	missense	probably benign
R1906:Folh1	UTSW	7	86,391,374 (GRCm39)	splice site	probably null
R1912:Folh1	UTSW	7	86,412,175 (GRCm39)	missense	possibly damaging	0.95
R2263:Folh1	UTSW	7	86,368,973 (GRCm39)	missense	probably benign
R3001:Folh1	UTSW	7	86,372,519 (GRCm39)	missense	probably damaging	1.00
R3002:Folh1	UTSW	7	86,372,519 (GRCm39)	missense	probably damaging	1.00
R3883:Folh1	UTSW	7	86,424,864 (GRCm39)	missense	possibly damaging	0.48
R4061:Folh1	UTSW	7	86,406,170 (GRCm39)	missense	possibly damaging	0.49
R4507:Folh1	UTSW	7	86,406,216 (GRCm39)	missense	probably benign
R4627:Folh1	UTSW	7	86,422,460 (GRCm39)	missense	probably benign	0.00
R4652:Folh1	UTSW	7	86,393,633 (GRCm39)	nonsense	probably null
R4653:Folh1	UTSW	7	86,393,633 (GRCm39)	nonsense	probably null
R4745:Folh1	UTSW	7	86,372,482 (GRCm39)	critical splice donor site	probably null
R5571:Folh1	UTSW	7	86,383,328 (GRCm39)	missense	probably damaging	1.00
R6000:Folh1	UTSW	7	86,375,142 (GRCm39)	missense	probably benign	0.01
R6307:Folh1	UTSW	7	86,372,517 (GRCm39)	missense	probably damaging	1.00
R6474:Folh1	UTSW	7	86,424,964 (GRCm39)	missense	probably damaging	0.99
R7112:Folh1	UTSW	7	86,424,845 (GRCm39)	critical splice donor site	probably null
R7131:Folh1	UTSW	7	86,375,320 (GRCm39)	missense	probably damaging	1.00
R7449:Folh1	UTSW	7	86,380,956 (GRCm39)	missense	probably benign	0.00
R7494:Folh1	UTSW	7	86,368,907 (GRCm39)	missense	probably damaging	1.00
R7539:Folh1	UTSW	7	86,375,117 (GRCm39)	missense	probably benign	0.35
R7764:Folh1	UTSW	7	86,412,126 (GRCm39)	missense	probably benign
R7803:Folh1	UTSW	7	86,375,306 (GRCm39)	missense	probably damaging	1.00
R8105:Folh1	UTSW	7	86,395,354 (GRCm39)	missense	probably damaging	1.00
R8208:Folh1	UTSW	7	86,375,125 (GRCm39)	missense	probably damaging	0.98
R8347:Folh1	UTSW	7	86,378,326 (GRCm39)	nonsense	probably null
R9130:Folh1	UTSW	7	86,368,913 (GRCm39)	missense	probably benign	0.12
R9749:Folh1	UTSW	7	86,368,908 (GRCm39)	missense	probably damaging	1.00
R9764:Folh1	UTSW	7	86,406,158 (GRCm39)	missense	probably benign	0.03
RF007:Folh1	UTSW	7	86,424,895 (GRCm39)	missense	probably benign
Z1088:Folh1	UTSW	7	86,375,162 (GRCm39)	missense	probably benign	0.00
Z1177:Folh1	UTSW	7	86,411,030 (GRCm39)	missense	probably benign	0.00
Z1177:Folh1	UTSW	7	86,393,655 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCCTACTTACTAACAAATAGGCG -3'
(R):5'- TCATGTGTCATGGCACTCGTG -3'

Sequencing Primer
(F):5'- AATAGGCGCATCACTCCTATTG -3'
(R):5'- GTCATTCAGAGATACCTCCATATGC -3'

Posted On

2015-06-20